How do doctors diagnose Ehlers-Danlos syndrome?

Doctors use your family history and several tests to diagnose Ehlers-Danlos syndrome. Your diagnosis may involve:

  • Genetic testing: The most common way to identify the condition is to look for a faulty gene.
  • Biopsy: In some cases, a doctor will use a test called a biopsy. In this test, the doctor removes a sample of skin and examines it under a microscope to look for signs of the condition, such as specific genes and gene mutations (abnormalities).
  • Physical exam: During a physical exam, doctors can see how much the skin stretches and how far the joints can move.
  • Imaging: Tests that provide images of the inside of the body can help doctors identify abnormalities including heart function problems and curved bones. These tests include X-rays and computerized tomography (CT) scans.

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